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Xu, R. Popliteal Pterygium Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5401 (accessed on 21 September 2026).
Xu R. Popliteal Pterygium Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5401. Accessed September 21, 2026.
Xu, Rita. "Popliteal Pterygium Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5401 (accessed September 21, 2026).
Xu, R. (2020, December 24). Popliteal Pterygium Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5401
Xu, Rita. "Popliteal Pterygium Syndrome." Encyclopedia. Web. 24 December, 2020.
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Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.
genetic conditions
References
- Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C,Vikkula M. Six families with van der Woude and/or popliteal pterygium syndrome:all with a mutation in the IRF6 gene. J Med Genet. 2004 Feb;41(2):e15.
- Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E,de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ,Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M,Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ,Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygiumsyndromes. Nat Genet. 2002 Oct;32(2):285-9.
- Schutte BC, Saal HM, Goudy S, Leslie E. IRF6-Related Disorders. 2003 Oct 30[updated 2014 Jul 3]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1407/
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